XB-IMG-175677
Xenbase Image ID: 175677
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Figure 1. Sodium channel mutations(A) Segregation of clinical phenotype and genotype among 7 carriers of p.R1460Q in family 1 from Finland. (B) Location of p.R1460 in the pore-forming subunit (NaV1.4) along with established sites for sodium channelopathies of skeletal muscle. CMS = congenital myasthenic syndrome; HyperPP = hyperkalemic periodic paralysis; HypoPP = hypokalemic periodic paralysis; PAM = paramyotonia congenita; SCM = sodium channel myotonia. Image published in: Elia N et al. (2019) Copyright © 2019 The Author(s). Creative Commons Attribution license Larger Image Printer Friendly View |